ClinVar Miner

Variants with conflicting interpretations between Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center and Natera, Inc.

Minimum review status of the submission from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center: Collection method of the submission from Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
11 7 0 9 10 0 2 21

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely benign benign
likely pathogenic 8 0 0
uncertain significance 2 2 8
likely benign 0 0 1

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His) rs185927948
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621
NM_004646.3(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695
NM_004646.3(NPHS1):c.2869G>C (p.Val957Leu) rs114849139
NM_004646.3(NPHS1):c.65C>T (p.Ala22Val) rs116617171
NM_005476.7(GNE):c.527A>T (p.Asp176Val) rs139425890
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767

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